A child is described with a de novo interstitial deletion of band 2p22 and a reciprocal translocation (3;7)(p21;q22). The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease. The clinical and cytogenetic findings are described.

Choroidal coloboma and posterior staphyloma are two clinically distinct entities, with choroidal excavation being a unifying feature. They are associated with early onset cataract which can make ophthalmoscopy difficult. This report studies the transition between the normal and ectatic area in these cases with ultrasound. We evaluate "posterior hump" as a sign of differentiation between these t...

Many reports of colobomata of the choroid, involving the peripheral choroid, are available in the literature, but no case of a localized congenital choroidal defect in the peripapillary region has bcen reported. A case of such colobomata present on both sides is reported here which, since coming under observation I0 years ago, has presented a considerable diagnostic problem to different ophthal...

BACKGROUND Congenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT) at the fixation point in a case of bilateral macular coloboma. CASE REPORT The subject is a 4-year-old boy. He visited our hospital at age 1 year and 4 months for the eva...

c d Konstantinos Spengos, MD, FESO Department of Neurology, University of Athens Vas. Sofias 82 GR–11528 Athens (Greece) Tel. +30 6946 466 216, Fax +30 210 674 2604 E-Mail [email protected] 3 Lenhart PD, Lambert SR, Newman NJ, et al: Intracranial vascular anomalies in patients with morning glory disk anomaly. Am J Ophthalmol 2006; 142: 644–650. 4 Krishnan C, Roy A, Traboulsi E: Morning glory disk ...

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves...

PURPOSE The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2. SOX2 plays roles in the development of both the posterior and anterior segment structures of the eye and relies on interactions with tissue-specific partner proteins to execute its function, raising the possibility that SOX2 mutations may result in varying...

A new type of intraocular lens has been devised. The lens is iris-supported but, in contrast to conventional iris-clip lenses, is fixed at the iris periphery, leaving the pupillary region free. The lens may be implanted either anterior or posterior to the iris plane. Implantation into the posterior chamber is particularly beneficial when combined with an extracapsular extraction. Eight years' e...

Retinal detachment in adults with posterior segment coloboma is thought to be rhegmatogenous. Vitrectomy techniques are therefore used therapeutically. There is indirect evidence that subretinal fluid in retinal detachment, associated with optic nerve cavitation, is cerebrospinal fluid (CSF). We report 2 pediatric cases, referred for the management of coloboma-related retinal detachment, that p...